A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype (Q52999067)
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Current Data About A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
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(P1476) "A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype" (language: en)
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(P2093) P Booms
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A P Withers
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M Boxer
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U C Kaufmann
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C Hagemeier
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U Vetter
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(P356) 10.1007/S004390050489
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